Mutagenetix > Incidental Mutation

Incidental Mutation 'R2063:Gm4787'

228877

Institutional Source

Beutler Lab

Gene Symbol

Gm4787

Ensembl Gene

ENSMUSG00000072974

Gene Name

predicted gene 4787

Synonyms

MMRRC Submission

040068-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R2063 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

81376991-81379464 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 81378920 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 155 (S155T)

Ref Sequence

ENSEMBL: ENSMUSP00000077390 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062182] [ENSMUST00000110340] [ENSMUST00000164386] [ENSMUST00000166723]

AlphaFold

B2RUD9

Predicted Effect

probably benign
Transcript: ENSMUST00000062182
AA Change: S155T

PolyPhen 2 Score 0.393 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000077390
Gene: ENSMUSG00000072974
AA Change: S155T

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
Pfam:Pep_M12B_propep	46	163	1.5e-19	PFAM
Pfam:Reprolysin	213	406	4.6e-18	PFAM
DISIN	425	500	2e-33	SMART
ACR	501	644	2.83e-53	SMART
transmembrane domain	714	736	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110340

SMART Domains

Protein: ENSMUSP00000105969
Gene: ENSMUSG00000091803

Domain	Start	End	E-Value	Type
Pfam:COX16	16	74	6.6e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164386

SMART Domains

Protein: ENSMUSP00000132941
Gene: ENSMUSG00000021139

Domain	Start	End	E-Value	Type
PDZ	21	100	6.16e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166723

SMART Domains

Protein: ENSMUSP00000130935
Gene: ENSMUSG00000091803

Domain	Start	End	E-Value	Type
Pfam:COX16	16	73	6.9e-16	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933436I01Rik	T	A	X: 67,920,702	I184L	probably benign	Het
9530002B09Rik	T	A	4: 122,689,322		probably benign	Het
Abca15	A	T	7: 120,360,904	T637S	possibly damaging	Het
Adgrv1	T	C	13: 81,561,469	K1135R	possibly damaging	Het
Afap1l1	A	T	18: 61,739,122		probably null	Het
AI467606	A	G	7: 127,092,837	S195G	probably damaging	Het
Alox12e	G	A	11: 70,316,002	R620W	probably damaging	Het
Ascc2	A	T	11: 4,681,496	M646L	probably benign	Het
Ccnt1	A	T	15: 98,551,942	H156Q	probably benign	Het
Cic	T	A	7: 25,273,451	V869E	probably damaging	Het
Cpsf2	A	G	12: 101,983,463	D118G	probably damaging	Het
Csnk1g1	A	G	9: 66,002,230	S210G	probably damaging	Het
Cyp2c40	T	A	19: 39,786,780	M343L	probably benign	Het
Cyp4a12b	A	T	4: 115,433,503	D274V	possibly damaging	Het
Dnaaf3	T	C	7: 4,523,799	I426M	possibly damaging	Het
Dnah3	C	T	7: 119,951,909	M3062I	probably damaging	Het
Dtx2	C	T	5: 136,030,577	S493F	probably damaging	Het
Elavl2	A	T	4: 91,253,450	S278R	possibly damaging	Het
Emilin2	T	C	17: 71,274,955	S259G	probably benign	Het
Endov	T	C	11: 119,499,582	F12S	probably damaging	Het
Faim2	G	A	15: 99,514,433	T140I	probably damaging	Het
Fbxo21	T	C	5: 117,976,966	S56P	probably benign	Het
Fgb	C	A	3: 83,049,689	D25Y	probably benign	Het
Foxj2	A	T	6: 122,840,241	H509L	probably benign	Het
Fth1	T	A	19: 9,984,212	L49Q	probably damaging	Het
Gbp11	C	A	5: 105,328,584	E220*	probably null	Het
Gm12695	T	C	4: 96,769,726	T69A	probably benign	Het
Gm1527	C	A	3: 28,926,647	T632N	probably benign	Het
Gm9573	T	A	17: 35,621,405		probably benign	Het
Gtf2f2	A	G	14: 75,917,696	S142P	possibly damaging	Het
Helb	T	C	10: 120,105,766	Y339C	probably benign	Het
Hs3st4	A	G	7: 124,397,013	I301V	probably benign	Het
Hunk	A	G	16: 90,493,480	D382G	probably damaging	Het
Ifnb1	T	A	4: 88,522,759	I6F	possibly damaging	Het
Il10	T	C	1: 131,020,033	L41P	probably damaging	Het
Il2rg	A	G	X: 101,267,810	L57P	possibly damaging	Het
Invs	T	A	4: 48,396,287	L320Q	probably damaging	Het
Itpr3	G	A	17: 27,098,076	M768I	probably benign	Het
Krt90	T	C	15: 101,558,359	E263G	probably benign	Het
Lama2	C	T	10: 27,164,926	C1467Y	probably damaging	Het
Med24	A	G	11: 98,715,646	L330P	probably damaging	Het
Mrto4	T	C	4: 139,349,023	K86E	probably benign	Het
Mtcl1	T	C	17: 66,346,355	R1065G	probably damaging	Het
Mtmr14	G	A	6: 113,240,361	G38D	probably damaging	Het
Mtus1	T	C	8: 41,082,708	E657G	probably damaging	Het
Myo5c	A	T	9: 75,281,868	Q1020L	probably benign	Het
Nav1	C	T	1: 135,449,004	R1694Q	probably damaging	Het
Nckap1	T	C	2: 80,570,150	K69R	probably damaging	Het
Nlrp1b	T	C	11: 71,161,086	N1012D	probably benign	Het
Ntrk2	A	C	13: 58,859,297	K238Q	probably damaging	Het
Oas1g	T	C	5: 120,885,883	E121G	probably damaging	Het
Olfr324	A	G	11: 58,597,570	N58S	probably damaging	Het
Olfr667	T	C	7: 104,916,775	N174D	probably benign	Het
Pcdh8	A	T	14: 79,768,211	S912R	probably damaging	Het
Pfpl	C	T	19: 12,429,873	S496L	probably damaging	Het
Phc2	T	C	4: 128,747,136	F672S	probably damaging	Het
Pkhd1l1	A	T	15: 44,550,752	H2805L	possibly damaging	Het
Pla2g4a	T	C	1: 149,840,676	N678S	possibly damaging	Het
Plxnb3	T	A	X: 73,771,751	Y1845*	probably null	Het
Polr1a	T	G	6: 71,936,285		probably null	Het
Prl3d3	A	C	13: 27,162,321	E180D	probably benign	Het
Prl7a2	T	A	13: 27,660,887	Y172F	probably damaging	Het
Prpf3	A	T	3: 95,844,239	D383E	probably benign	Het
Psmc4	A	T	7: 28,048,897	L73H	probably damaging	Het
Rapgef3	C	A	15: 97,766,961	G7V	probably damaging	Het
Rasl12	G	A	9: 65,410,824	G157R	probably damaging	Het
Rnf38	A	C	4: 44,149,098	V83G	probably damaging	Het
Rnls	A	C	19: 33,202,544	S51A	probably benign	Het
Siglecf	A	G	7: 43,352,380	T205A	possibly damaging	Het
Skint1	T	A	4: 112,025,533	V258D	probably benign	Het
Slc12a5	C	T	2: 164,997,147	R1072W	probably damaging	Het
Spata13	GTTAGGCT	GT	14: 60,760,871		probably benign	Het
Specc1	T	G	11: 62,118,296	S293A	probably benign	Het
Speer2	T	G	16: 69,860,497	Q86P	probably benign	Het
Tbc1d15	T	C	10: 115,229,173	D169G	probably benign	Het
Tbx20	C	A	9: 24,769,771	E142*	probably null	Het
Tcp1	T	A	17: 12,920,812	L199H	probably damaging	Het
Tex26	A	T	5: 149,439,739	R5W	probably damaging	Het
Tg	C	A	15: 66,828,553	A120E	probably damaging	Het
Thrap3	T	C	4: 126,175,396	Y654C	possibly damaging	Het
Tmem57	A	T	4: 134,828,279	N294K	possibly damaging	Het
Troap	T	C	15: 99,082,463	L508P	probably benign	Het
Ubap2	C	T	4: 41,199,872	A752T	probably benign	Het
Ush1c	T	C	7: 46,229,481	Y74C	probably damaging	Het
Vmn1r55	A	G	7: 5,147,049	V125A	possibly damaging	Het
Vmn2r120	T	A	17: 57,524,553	H412L	possibly damaging	Het
Vps54	C	T	11: 21,277,955	T176I	probably damaging	Het
Wdr95	T	C	5: 149,579,162		probably null	Het
Zfp81	T	C	17: 33,335,304	T179A	probably benign	Het

Other mutations in Gm4787

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01719:Gm4787	APN	12	81377174	missense	possibly damaging	0.50
IGL01916:Gm4787	APN	12	81377444	missense	probably benign	0.36
IGL02193:Gm4787	APN	12	81378528	missense	probably benign	0.02
IGL02623:Gm4787	APN	12	81378728	missense	probably damaging	1.00
IGL02681:Gm4787	APN	12	81378769	missense	possibly damaging	0.88
IGL03257:Gm4787	APN	12	81378052	missense	probably damaging	1.00
IGL03410:Gm4787	APN	12	81379174	missense	probably damaging	1.00
F5770:Gm4787	UTSW	12	81377567	nonsense	probably null
PIT4362001:Gm4787	UTSW	12	81377175	missense	probably benign
R0070:Gm4787	UTSW	12	81379066	missense	probably damaging	1.00
R0128:Gm4787	UTSW	12	81377747	nonsense	probably null
R0220:Gm4787	UTSW	12	81378648	missense	probably damaging	0.98
R0304:Gm4787	UTSW	12	81378934	missense	probably damaging	1.00
R0513:Gm4787	UTSW	12	81378312	missense	probably benign	0.03
R1761:Gm4787	UTSW	12	81377176	missense	probably benign	0.02
R1809:Gm4787	UTSW	12	81378529	missense	possibly damaging	0.91
R1853:Gm4787	UTSW	12	81378334	missense	probably damaging	1.00
R1854:Gm4787	UTSW	12	81378334	missense	probably damaging	1.00
R2030:Gm4787	UTSW	12	81378770	missense	probably damaging	1.00
R2112:Gm4787	UTSW	12	81377833	missense	probably damaging	1.00
R2140:Gm4787	UTSW	12	81378562	missense	probably benign	0.03
R2151:Gm4787	UTSW	12	81377219	missense	probably benign	0.00
R2152:Gm4787	UTSW	12	81377219	missense	probably benign	0.00
R2342:Gm4787	UTSW	12	81378758	missense	possibly damaging	0.91
R2504:Gm4787	UTSW	12	81379137	missense	possibly damaging	0.93
R4038:Gm4787	UTSW	12	81378358	missense	probably damaging	1.00
R4604:Gm4787	UTSW	12	81379213	missense	probably benign	0.17
R4748:Gm4787	UTSW	12	81378056	missense	probably damaging	1.00
R4750:Gm4787	UTSW	12	81378367	missense	possibly damaging	0.95
R4928:Gm4787	UTSW	12	81378838	missense	probably benign	0.03
R4960:Gm4787	UTSW	12	81379316	missense	probably damaging	0.99
R4974:Gm4787	UTSW	12	81377629	missense	probably damaging	0.99
R5028:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5029:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5031:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5098:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5099:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5100:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5101:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5135:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5152:Gm4787	UTSW	12	81378677	missense	probably benign	0.02
R5180:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5220:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5257:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5258:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5297:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5324:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5325:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5355:Gm4787	UTSW	12	81377465	nonsense	probably null
R5364:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5396:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5397:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5398:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5514:Gm4787	UTSW	12	81378328	missense	possibly damaging	0.90
R5634:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5666:Gm4787	UTSW	12	81378031	missense	probably benign	0.23
R5670:Gm4787	UTSW	12	81378031	missense	probably benign	0.23
R5787:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5788:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R6354:Gm4787	UTSW	12	81377981	missense	probably damaging	1.00
R6932:Gm4787	UTSW	12	81379200	missense	probably benign	0.04
R7120:Gm4787	UTSW	12	81378486	missense	probably benign	0.00
R7237:Gm4787	UTSW	12	81377668	missense	probably damaging	0.99
R7937:Gm4787	UTSW	12	81377905	missense	probably benign	0.01
R8022:Gm4787	UTSW	12	81377720	missense	possibly damaging	0.94
R8140:Gm4787	UTSW	12	81378151	missense	probably benign	0.00
R8314:Gm4787	UTSW	12	81379135	missense	probably damaging	1.00
R8480:Gm4787	UTSW	12	81377506	missense	probably damaging	1.00
R8498:Gm4787	UTSW	12	81379066	missense	probably damaging	1.00
R8515:Gm4787	UTSW	12	81377269	missense	probably benign	0.00
R9103:Gm4787	UTSW	12	81378715	missense	probably benign	0.06
R9457:Gm4787	UTSW	12	81379246	missense	probably damaging	1.00
R9557:Gm4787	UTSW	12	81379300	nonsense	probably null
R9608:Gm4787	UTSW	12	81378312	missense	probably benign	0.03
V7580:Gm4787	UTSW	12	81377567	nonsense	probably null
V7581:Gm4787	UTSW	12	81377567	nonsense	probably null
V7582:Gm4787	UTSW	12	81377567	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGGTAACGCCACAGATATACAG -3'
(R):5'- TGTGGTCCACATGAAACTCAAG -3'

Sequencing Primer
(F):5'- CACAGATATACAGGGGCTGCTCTG -3'
(R):5'- GTATATACCTCTAATGACCAAGGAGC -3'

Posted On

2014-09-17